Haddad syndrome

Anaesthesiol Intensive Ther. 2013 Jan-Mar;45(1):30-2. doi: 10.5603/AIT.2013.0006.

Abstract

Haddad syndrome is a rare genetically conditioned disease. We present a female newborn with congenital central hypoventilation syndrome associated with Hirschprung's disease. The infant is mechanically ventilated and parentally fed in a home setting. The diagnosis has been confirmed by the presence of 20/26 PHOX2B genetic mutation.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Homeodomain Proteins / genetics
  • Humans
  • Hypoventilation / congenital*
  • Hypoventilation / diagnosis
  • Hypoventilation / genetics
  • Hypoventilation / therapy
  • Infant, Newborn
  • Mutation
  • Sleep Apnea, Central / diagnosis*
  • Sleep Apnea, Central / genetics
  • Sleep Apnea, Central / therapy
  • Transcription Factors / genetics

Substances

  • Homeodomain Proteins
  • NBPhox protein
  • Transcription Factors

Supplementary concepts

  • Congenital central hypoventilation syndrome